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Hereditary syndrome of amaurosis congenita (Leber) and famiiial juvenile nephronophthisis (Fanconi) Takako Mikawa 1 , Akiko Matsushita 1 , Masanori Kubo 1 , Yukihiko Mitsui 1 , Tsuneo Ninomiya 2 , Toyomi Yoshimura 2 , Masuhide Miyao 2 1Department of Ophthalmology Tokushima University School of Medicine 2Department of Pediatrics Tokushima University School of Medicine pp.571-575
Published Date 1976/5/15
DOI https://doi.org/10.11477/mf.1410205462
  • Abstract
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A family is described in which three of six sib-lings suffered from amaurosis congenita (Leber) in conbination with congenital type of familial juvenile nephronophthisis (Fanconi). Two of the three cases were examined by the authors and the diagnosis was confirmed. The last case was examined by records. She had congenital blind-ness and died by a convulsion-attack at her one and half years of age. The two cases exa-mined by the authors had congenital blindness with nystagmus but showed least changes in the fundus by ophthalmoscopy. They died by uremia at their one and two years of age, respect-ively.


Copyright © 1976, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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